Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

被引:19
作者
Cupini, LM
Massa, R
Floris, R
Manenti, G
Martini, B
Tessa, A
Nappi, G
Bernardi, G
Santorelli, FM
机构
[1] Univ Roma Tor Vergata, Neurol Clin, Osped S Eugenio, I-00144 Rome, Italy
[2] Univ Roma Tor Vergata, Ist Radiol, Osped S Eugenio, I-00144 Rome, Italy
[3] IRCCS, C Mondino Ctr Neurobiol Sperimentale Mondino Tor, Mol Neurogenet Lab, Rome, Italy
[4] Bambino Gesu Pediat Hosp, IRCCS, Rome, Italy
[5] Univ Roma La Sapienza, ORL & Riabilitaz Motoria & Sensoriale, Dipartimento Neurol, Rome, Italy
关键词
D O I
10.1212/01.WNL.0000048662.77572.FB
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The authors report neurologic features in a large family harboring the mitochondrial DNA (mtDNA) mutation T14484C associated with Leber hereditary optic neuropathy (LHON). In the maternal line the mtDNA mutation was associated with optic neuropathy or migraine with aura or without aura and transient neurologic/visual disturbances. The segregation of familiar cases of migraine and LHON mutation broadens the clinical phenotype associated with a primary LHON mutation.
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页码:717 / 719
页数:3
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